MCID: MTC075
MIFTS: 28

Metachromatic Leukodystrophy, Late Infantile Form

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 59
Arylsulfatase a Deficiency, Late Infantile Form 59
Mld, Late Infantile Form 59

Characteristics:

Orphanet epidemiological data:

59
metachromatic leukodystrophy, late infantile form
Age of onset: Infancy; Age of death: early childhood;

Classifications:



Summaries for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards based summary : Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile form, is related to metachromatic leukodystrophy and leukodystrophy. An important gene associated with Metachromatic Leukodystrophy, Late Infantile Form is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, and related phenotypes are emotional lability and seizures

Related Diseases for Metachromatic Leukodystrophy, Late Infantile Form

Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

Diseases related to Metachromatic Leukodystrophy, Late Infantile Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 30.2 ARSA PSAP
2 leukodystrophy 30.1 ARSA PSAP
3 metachromatic leukodystrophy, juvenile form 9.9 ARSA PSAP
4 metachromatic leukodystrophy, adult form 9.9 ARSA PSAP
5 inclusion-cell disease 9.9 ARSA PSAP
6 gangliosidosis gm1 9.8 ARSA PSAP
7 krabbe disease 9.8 ARSA PSAP
8 sphingolipidosis 9.8 ARSA PSAP
9 tay-sachs disease 9.8 ARSA PSAP
10 lipid storage disease 9.8 ARSA PSAP
11 gaucher's disease 9.7 ARSA PSAP

Graphical network of the top 20 diseases related to Metachromatic Leukodystrophy, Late Infantile Form:



Diseases related to Metachromatic Leukodystrophy, Late Infantile Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Late Infantile Form

Human phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
6 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
7 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
8 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
9 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
10 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
11 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
12 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
13 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
14 reduced visual acuity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007663
15 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
16 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
17 abnormal social behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0012433
18 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
19 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
20 cholecystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001082
21 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
22 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
23 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
24 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
25 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
26 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
27 delusions 59 32 occasional (7.5%) Occasional (29-5%) HP:0000746
28 loss of speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002371
29 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
30 punctate periventricular t2 hyperintense foci 59 32 frequent (33%) Frequent (79-30%) HP:0030081
31 abnormality of proteoglycan metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0004355
32 progressive peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007133
33 decerebrate rigidity 59 32 very rare (1%) Very rare (<4-1%) HP:0025013
34 vegetative state 59 32 very rare (1%) Very rare (<4-1%) HP:0031358
35 gait ataxia 59 Frequent (79-30%)
36 emg: chronic denervation signs 59 Frequent (79-30%)
37 emg 32 frequent (33%) HP:0003444

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ARSA PSAP

Drugs & Therapeutics for Metachromatic Leukodystrophy, Late Infantile Form

Search Clinical Trials , NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

Genetic Tests for Metachromatic Leukodystrophy, Late Infantile Form

Anatomical Context for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards organs/tissues related to Metachromatic Leukodystrophy, Late Infantile Form:

41
Eye

Publications for Metachromatic Leukodystrophy, Late Infantile Form

Variations for Metachromatic Leukodystrophy, Late Infantile Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Late Infantile Form:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh37 Chromosome 22, 51065766: 51065766
2 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh38 Chromosome 22, 50627338: 50627338
3 ARSA ARSA, 11-BP DEL, EX8 deletion Pathogenic
4 ARSA ARSA, 1-BP DEL, 447C deletion Pathogenic
5 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Likely pathogenic rs74315459 GRCh37 Chromosome 22, 51064630: 51064630
6 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Likely pathogenic rs74315459 GRCh38 Chromosome 22, 50626202: 50626202
7 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh37 Chromosome 22, 51065110: 51065110
8 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh38 Chromosome 22, 50626682: 50626682
9 ARSA NM_000487.5(ARSA): c.905G> T (p.Cys302Phe) single nucleotide variant Pathogenic rs74315484 GRCh37 Chromosome 22, 51064656: 51064656
10 ARSA NM_000487.5(ARSA): c.905G> T (p.Cys302Phe) single nucleotide variant Pathogenic rs74315484 GRCh38 Chromosome 22, 50626228: 50626228

Expression for Metachromatic Leukodystrophy, Late Infantile Form

Search GEO for disease gene expression data for Metachromatic Leukodystrophy, Late Infantile Form.

Pathways for Metachromatic Leukodystrophy, Late Infantile Form

Pathways related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 ARSA PSAP
2 10.71 ARSA PSAP

GO Terms for Metachromatic Leukodystrophy, Late Infantile Form

Cellular components related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 ARSA PSAP
2 lysosomal lumen GO:0043202 8.62 ARSA PSAP

Biological processes related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 ARSA PSAP
2 glycosphingolipid metabolic process GO:0006687 8.62 ARSA PSAP

Sources for Metachromatic Leukodystrophy, Late Infantile Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....